Transcription Factors and Human DiseaseOxford University Press, 1998 - 368 pages Several general principles have emerged from the study of human transcription factors. First, germline mutations in genes encoding transcription factors result in malformation syndromes in which the development of multiple body structures is affected. Second, somatic mutations involving many of the same genes contribute to tumorigenesis. Third, transcriptional regulatory mechanisms demonstrate remarkable evolutionary conservation. Fourth, prenatal development and postnatal physiology are unified by the demonstration that a single transription factor can control the proliferation of progenitor cells during development and the expression within the differentiated cells of gene products that participate in specific physiologic responses. Transcription Factors and Human Disease presents the basic science of transcriptional regulation and then describes inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites. The involvement of transcription factors in somatic cell genetic diseases (cancer) and epigenetic disease (teratogenesis) is briefly discussed. The effect of specific mutations on transcription factor activity and the relationship between transcriptional dysregulation, dominant or recessive inheritance patterns, and disease pathogenesis are also explored. This book thus provides a direct connection between molecular defects in transcriptional regulation and human pathophysiology. |
Table des matières
Gene Expression and Transcriptional Regulation | 7 |
Cisacting Transcriptional Regulatory Elements | 26 |
Transacting Factors | 42 |
Transcriptional Pathophysiology | 113 |
Mutations in Cisacting Transcriptional Regulatory Elements | 114 |
The Nuclear Receptor Superfamily | 127 |
WT1 and GLI3 | 155 |
PAX Proteins | 169 |
HMG Domain Proteins | 247 |
POU Domain Proteins | 261 |
Other Transcription Factor Families | 272 |
Coactivators | 289 |
General Transcription Factors | 299 |
Cancer | 310 |
Teratogenesis | 347 |
359 | |
Expressions et termes fréquents
Acad activate transcription allele amino acid analysis associated autosomal bHLH bind to DNA binding sites Biol bZIP cancer cells Chapter chromatin chromosome cis-acting coactivators contains craniofacial defects deletion dimerization DNA sequences DNA-binding domain Drosophila effect embryos function fusion gene expression Genes Dev genes encoding Genet genomic GLI3 histone homeobox homeodomain homologous homozygous hormone human hypoplasia identified interactions kinase leukemia limb locus malformations mammalian mediated mice missense mutation molecular motif mouse mRNA MSX1 MSX2 Natl neural nuclear receptor nucleosome nucleotide paired domain patients PAX2 PAX3 PAX6 phenotype phosphorylation PIT1 Proc promoter protein region repressor residues retinoic acid reviewed role scription sequence-specific SOX9 specific structure subunit suggesting SWI/SNF TAFS TBX5 TFIID tion tran trans-acting factors transactivation domain transcription factors transcription initiation complex transcriptional activation transcriptional regulation transgenic translocation tumor Waardenburg syndrome whereas wild-type X-linked yeast zinc finger
Références à ce livre
Protein-Nucleic Acid Interactions: Structural Biology Phoebe A. Rice,Carl C. Correll Aperçu limité - 2008 |